Article
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
PloS one - 1 Jan 2015
Loconte Daria C, Grossi Valentina, Bozzao Cristina, Forte Giovanna, Bagnulo Rosanna, Stella Alessandro, Lastella Patrizia, Cutrone Mario, Benedicenti Francesco, Susca Francesco C, Patruno Margherita, Varvara Dora, Germani Aldo, Chessa Luciana, Laforgia Nicola, Tenconi Romano, Simone Cristiano, Resta Nicoletta
Abstract excerpt
BACKGROUND: PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like fibroadipose overgrowth (FAO), megalencephaly-capillary malformation (MCAP) syndrome, congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi,...
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